QuyenAnhDE/medical huggingface dataset:
bulbospinal polio
Definition: A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs.
paralytic poliomyelitis
Definition: A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis.
O'nyong'nyong fever
Definition: A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis.
Barmah Forest virus disease
Definition: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
Ross River fever
Definition: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
Synonyms: Ross River virus disease
Lymphocytic choriomeningitis virus meningitis
Definition: A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck.
Lymphocytic choriomeningitis virus meningoencephalitis
Definition: A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
Oropouche fever
Definition: A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting.
Balkan hemorrhagic fever
Definition: A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure.
adult T-cell leukemia
Definition: A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.
Synonyms: Adult T-cell leukemia/lymphoma
maturity-onset diabetes of the young
Definition: A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production.
Synonyms: MODY
acroosteolysis
Synonyms: Acroosteolysis syndrome RELATED [SNOMEDCT_2005_07_31:27201004]
Gamstorp-Wohlfart syndrome
Definition: A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.
Synonyms: myokymia, myotonia and muscle wasting
familial hypertriglyceridemia
Definition: A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency.
Synonyms: Pure hyperglyceridemia
nonphotosensitive trichothiodystrophy
Synonyms: HAIR-BRAIN SYNDROME
adult spinal muscular atrophy
Synonyms: SPINAL MUSCULAR ATROPHY, TYPE IV
intermediate spinal muscular atrophy
Synonyms: MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
lentiginosis profusa
Synonyms: LENTIGINOSIS, INHERITED PATTERNED
epidermal nevus
Synonyms: PIGMENTED MOLES
soldiers heart
Synonyms: ORTHOSTATIC INTOLERANCE
congenital stationary night blindness
Definition: A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.
Synonyms: congenital essential nyctalopia
exudative vitreoretinopathy
Definition: A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.
Synonyms: FEVR
SC phocomelia syndrome
Synonyms: SC PSEUDOTHALIDOMIDE SYNDROME
posterior polar cataract
Synonyms: CATARACT, POSTERIOR POLAR
Charcot-Marie-Tooth disease type 1
Definition: A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
Synonyms: hereditary motor and sensory neuropathy type 1
Charcot-Marie-Tooth disease type 2
Definition: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
Synonyms: hereditary motor and sensory neuropathy type 2
Charcot-Marie-Tooth disease type 3
Synonyms: DEJERINE-SOTTAS SYNDROME
Charcot-Marie-Tooth disease type 4
Definition: A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.
Synonyms: spinal CMT
Charcot-Marie-Tooth disease type X
Definition: A Charcot-Marie-Tooth disease has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.
Synonyms: COWCK
Charcot-Marie-Tooth disease intermediate type
Definition: A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.
Synonyms: Charcot-Marie-Tooth disease recessive intermediate
hypermethioninemia
Definition: An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
Synonyms: hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
visceral heterotaxy
Definition: A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
Synonyms: situs ambiguus
congenital adrenal insufficiency
Synonyms: P450scc DEFICIENCY
familial medullary thyroid carcinoma
Definition: A thyroid medullary carcinoma that has_material_basis_in autosomal dominant inheritance. []
Synonyms: THYROID CARCINOMA, FAMILIAL MEDULLARY
hereditary sensory neuropathy
Definition: A peripheral neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
Synonyms: hereditary sensory and autonomic neuropathy
Saldino-Noonan syndrome
Synonyms: type I short rib polydactyly syndrome
Majewski syndrome
Synonyms: type II short rib-polydactyly syndrome
Verma-Naumoff syndrome
Synonyms: type III short rib-polydactyly syndrome
JMP syndrome
Definition: An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy.
Synonyms: JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
X-linked sideroblastic anemia with ataxia
Synonyms: X-linked sideroblastic anemia and ataxia
infantile onset spinocerebellar ataxia
Synonyms: OHAHA SYNDROME
congenital muscular dystrophy
Definition: A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities.
Ullrich congenital muscular dystrophy
Synonyms: Ullrich scleroatonic muscular dystrophy
Fukuyama congenital muscular dystrophy
Walker-Warburg syndrome
Synonyms: HARD syndrome
Lennox-Gastaut syndrome
Synonyms: Lennox syndrome
West syndrome
nonsyndromic deafness
Definition: An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
Synonyms: nonsyndromic hereditary hearing loss
autosomal dominant nonsyndromic deafness
Definition: A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.
Synonyms: autosomal dominant deafness
autosomal recessive nonsyndromic deafness
Definition: A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.
Synonyms: autosomal recessive deafness
X-linked nonsyndromic deafness
Definition: A nonsyndromic deafness characterized by an X-linked inheritance mode.
Synonyms: X-linked deafness
orofacial cleft
spondylocostal dysostosis
Definition: A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.
Synonyms: spondylothoracic dysplasia
Seckel syndrome
Definition: An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
Synonyms: Virchow-Seckel dwarfism
congenital disorder of glycosylation type I
Definition: A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.
Synonyms: SRD5A3-CDG (CDG-1q)
congenital disorder of glycosylation type II
Definition: A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.
Synonyms: MOGS-CDG (CDG-2b)
cone-rod dystrophy
Definition: A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
Synonyms: cone-rod retinal dystrophy
2-hydroxyglutaric aciduria
Definition: An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
L-2-hydroxyglutaric aciduria
Definition: An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
Synonyms: L-2-HYDROXYGLUTARIC ACIDEMIA
D-2-hydroxyglutaric aciduria
Definition: An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
Senior-Loken syndrome
Definition: An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
Synonyms: renal-retinal syndrome
Sensenbrenner syndrome
Synonyms: Levin syndrome
occult macular dystrophy
Definition: A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.
glycogen storage disease XV
Synonyms: glycogen storage disease type XV
hereditary lymphedema
Definition: A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.
Synonyms: Nonne-Milroy lymphedema
brachydactyly
Definition: A bone development disease characterized by short fingers and toes.
Chlamydophila pneumoniae infectious disease
gummatous syphilis
Definition: A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.
congenital generalized lipodystrophy
Synonyms: Beradinelli-Seip syndrome
trichotillomania
Definition: An impulse control disorder that involves the uncontrollable plucking of ones hair.
muscular dystrophy-dystroglycanopathy
Synonyms: CMD due to dystroglycanopathy
inflammatory bowel disease
Definition: An intestinal disease characterized by inflammation located_in all parts of digestive tract.
severe congenital neutropenia
Definition: A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
tooth agenesis
Definition: A tooth disease characterized by failure to develop on or more missing teeth.
Synonyms: selective tooth agenesis
asphyxiating thoracic dystrophy
Synonyms: Jeune syndrome
primary congenital glaucoma
glycogen storage disease IX
mucormycosis
taeniasis
Definition: A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat.
Synonyms: Taenia saginata infectious disease RELATED []
intestinal schistosomiasis
Definition: A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
Synonyms: schistosomiasis japonica
extrapulmonary tuberculosis
Definition: A tuberculosis that occurs at body sites other than the lung.
abdominal tuberculosis
Definition: An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas.
ABCD syndrome
Definition: An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
Synonyms: ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS
ADULT syndrome
Definition: An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63.
Synonyms: acro-dermato-ungual-lacrimal-tooth syndrome
triple-A syndrome
Synonyms: Allgrove Syndrome
acheiropody
Synonyms: Horn-Kolb Syndrome
acrocapitofemoral dysplasia
acrodermatitis enteropathica
acrokeratosis verruciformis
Synonyms: Hopf disease
Askin's tumor
Synonyms: Askin tumor
oral cavity carcinoma in situ
pharynx carcinoma in situ
gall bladder carcinoma in situ
bile duct carcinoma in situ
bronchus carcinoma in situ
respiratory system cancer
Definition: An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
malignant Leydig cell tumor
Synonyms: malignant Leydig cell neoplasm
malignant Sertoli cell tumor
malignant Sertoli-Leydig cell tumor
paranasal sinus cancer
Definition: A respiratory system cancer that is located_in the paranasal sinuses.
Synonyms: squamous cell carcinoma of paranasal sinus RELATED []
infiltrating renal pelvis transitional cell carcinoma
respiratory system benign neoplasm
Definition: An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
reproductive organ benign neoplasm
Definition: An organ system benign neoplasm that is located_in reproductive system organs.
bladder benign neoplasm
gastrointestinal system benign neoplasm
Definition: An organ system benign neoplasm located_in gastrointestinal tract organs.
biliary tract neoplasm
Definition: A hepatobiliary benign neoplasm located_in the biliary tract.
Synonyms: tumor of the extrahepatic bile duct
gastrointestinal neuroendocrine tumor
Definition: A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.
Synonyms: malignant gastrointestinal neuroendocrine tumor
advanced sleep phase syndrome
Definition: A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.
Synonyms: familial advanced sleep-phase syndrome
Aicardi-Goutieres syndrome
Definition: An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
Synonyms: Cree encephalitis
Aland Island eye disease
Synonyms: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
Allan-Herndon-Dudley syndrome
Definition: An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
Synonyms: ALLAN-HERNDON SYNDROME
oculocutaneous albinism
Definition: An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.
ocular albinism
alopecia universalis
Synonyms: ALOPECIA UNIVERSALIS CONGENITA
alternating hemiplegia of childhood
Definition: A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
Synonyms: AHC
familial visceral amyloidosis
Synonyms: systemic nonneuropathic amyloidosis
Finnish type amyloidosis
Synonyms: AMYLOIDOSIS, MERETOJA TYPE
transthyretin amyloidosis
Definition: An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
Synonyms: TTR amyloidosis
primary cutaneous amyloidosis
Definition: An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
Synonyms: PCA
anauxetic dysplasia
Rh deficiency syndrome
hypochromic microcytic anemia
Definition: A microcytic anemia characterized by paler than normal blood cells.
anonychia congenita
Synonyms: HYPONYCHIA CONGENITA
arterial calcification of infancy
Definition: A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
Synonyms: infantile arteriosclerosis
arterial tortuosity syndrome
Definition: A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
distal arthrogryposis
Definition: A muscle tissue disease characterized by congenital joint contractures of hand and feet.
Synonyms: Sheldon-Hall syndrome
Arts syndrome
Definition: An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
Synonyms: Lethal ataxia with deafness and optic atrophy
atelosteogenesis
atransferrinemia
Synonyms: familial hypotransferrinemia
familial atrial fibrillation
Definition: An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
Synonyms: ATFB
atrioventricular septal defect
Definition: A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
Synonyms: endocardial cushion defect
soft tissue cancer
dysplastic nevus
Synonyms: nevus of Clark
Baller-Gerold syndrome
Definition: A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.
Bamforth-Lazarus syndrome
Synonyms: HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
pseudo-TORCH syndrome
Synonyms: band-like calcification with simplified gyration and polymicrogyria
Bannayan-Riley-Ruvalcaba syndrome
Synonyms: RUVALCABA-MYHRE-SMITH SYNDROME
Bart-Pumphrey syndrome
Synonyms: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
biotin-responsive basal ganglia disease
Beare-Stevenson cutis gyrata syndrome
vitelliform macular dystrophy
Definition: A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula.
Synonyms: juvenile-onset vitelliform macular dystrophy
bestrophinopathy
Synonyms: autosomal recessive bestrophinopathy
Bethlem myopathy
Synonyms: benign congenital muscular dystrophy
Bietti crystalline corneoretinal dystrophy
Synonyms: Bietti's crystalline dystrophy
fetal alcohol syndrome
Definition: A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.
partial fetal alcohol syndrome
Definition: A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.
alcohol-related neurodevelopmental disorder
Definition: A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.
Synonyms: static encephalopathy
alcohol-related birth defect
Definition: A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.
Synonyms: ARBD
spastic cerebral palsy
Definition: A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements.
ataxic cerebral palsy
Definition: A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.
Synonyms: hypotonic cerebral palsy
female breast cancer